Human chromosome 2 formed from the evolutionary fusion of two ancestral chromosomes.
Extensive genomic, cytogenetic, and sequencing evidence confirms that human chromosome 2 originated from the head-to-head fusion of two ancestral chromosomes, explaining the reduction from 48 chromosomes in great apes to 46 in humans.
The claim is a well-established scientific fact supported by multiple molecular and cytogenetic studies demonstrating the presence of fused telomeric sequences and an inactivated centromere remnant on human chromosome 2. Paper [2] represents a fringe/creationist viewpoint rejecting common descent, but the overwhelming consensus and robust direct evidence across the remaining papers strongly support the fusion model.
J W IJdo, A Baldini, D C Ward, S T Reeders, R A Wells. Origin of human chromosome 2: an ancestral telomere-telomere fusion.. 1991. https://doi.org/10.1073/pnas.88.20.9051
Identifies telomeric repeats in a head-to-head arrangement at the human chromosome 2 locus, confirming an ancient telomere-telomere fusion.
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Yuxin Fan, Elena Linardopoulou, Cynthia Friedman, Eleanor Williams, Barbara J. Trask. Genomic Structure and Evolution of the Ancestral Chromosome Fusion Site in 2q13–2q14.1 and Paralogous Regions on Other Human Chromosomes. 2002. https://doi.org/10.1101/gr.337602
Details the genomic structure of the >600 kb region surrounding the fusion site on human chromosome 2.
Barbara Poszewiecka, Krzysztof Gogolewski, Paweł Stankiewicz, Anna Gambin. Revised time estimation of the ancestral human chromosome 2 fusion.. 2022. https://doi.org/10.1186/s12864-022-08828-7
Estimates the timing of the ancestral human chromosome 2 fusion using substitution analysis around the fusion site.
Giorgia Chiatante, Giuliana Giannuzzi, Francesco Maria Calabrese, Evan E Eichler, Mario Ventura. Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region.. 2017. https://doi.org/10.1093/molbev/msx108
Characterizes the relicts of the chromosome 2q ancestral centromere and how the chromosome was stabilized after fusion.
D Haig. A brief history of human autosomes.. 1999. https://doi.org/10.1098/rstb.1999.0490
Notes that the modern human karyotype differs from ancestral primates by specific chromosomal events, including the fusion forming human chromosome 2.
Paweł Stankiewicz. One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion?. 2016. https://doi.org/10.1186/s13039-016-0283-3
Discusses the reduction in chromosome number caused by the head-to-head fusion of two ancestral chromosomes to form human chromosome 2.
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